Litcius/Paper detail

Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy

Maimuna Sali Paul, Anna R. Duncan, Casie A. Genetti, Hongling Pan, Adam Jackson, P. Ellen Grant, Jiahai Shi, Michele Pinelli, Nicola Brunetti‐Pierri, Alexandra Garza-Flores, Dave Shahani, Russell P. Saneto, Giuseppe Zampino, Chiara Leoni, Emanuele Agolini, Antonio Novelli, Ulrike Blümlein, Tobias B. Haack, Wolfram Heinritz, Eva Matzker, Bader Alhaddad, Rami Abou Jamra, Tobias Bartolomaeus, Saber AlHamdan, Raphaël Carapito, Bertrand Isidor, Seiamak Bahram, Alyssa Ritter, Kosuke Izumi, Ben Pode Shakked, Ortal Barel, Bruria Ben Zeev, Amber Begtrup, Deanna Alexis Carere, Sureni V. Mullegama, Timothy Blake Palculict, Daniel G. Calame, Katharina Schwan, Alicia R. P. Aycinena, Rasa Traberg, Sofia Douzgou, Harrison Pirt, Naila Ismayilova, Siddharth Banka, Hsiao‐Tuan Chao, Pankaj B. Agrawal

2022The American Journal of Human Genetics30 citationsDOIOpen Access PDF

Topics & Concepts

HypotoniaIntellectual disabilityEpilepsyNeurodevelopmental disorderMedicineMuscle HypotoniaPediatricsPsychiatryPsychologyAutismGenetics and Neurodevelopmental DisordersGenomics and Rare DiseasesCellular transport and secretion